Painless Nav1.7 mutations reveal function-critical residuesin the outer vestibule and N-terminus
Nivedita Sarveswaran, Ichrak Drissi, Samiha S. Shaikh, Mike Nahorski, Fiona S. Cusdin, John E. Linley, Geoff Woods
The paper functionally characterizes six SCN9A missense variants associated with CIP, revealing that they cause complete loss-of-function through structural changes in the extracellular vestibule, ion selectivity filter, and N-terminus.
bioRxiv · May 12, 2025 · PreprintMolecular Biology